Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	IRAK4 Deficiency
Synonyms	Invasive Pneumococcal Disease, Recurrent Isolated, 1 Irak-4 Deficiency IRAK4D
ID	http://purl.bioontology.org/ontology/MESH/C564352
altLabel	Invasive Pneumococcal Disease, Recurrent Isolated, 1 Irak-4 Deficiency IRAK4D
cui	C1843256
HM	D053592 D000081207
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D053592 http://purl.bioontology.org/ontology/MESH/D000081207
MDA	20121105
MeSH Frequency	28
MMR	20210809
notation	C564352
PI	IMMUNOLOGIC DEFICIENCY SYNDROMES (2014-2019)
prefLabel	IRAK4 Deficiency
SC	3
Scope Statement	mutation in IRAK4
TERMUI	T823533 T823534 T803329 T841760
TH	OMIM (2013) GHR (2014)
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/OMIM/606883	OMIM	CUI
http://purl.bioontology.org/ontology/OMIM/607676	OMIM	CUI
http://purl.obolibrary.org/obo/OMIM_607676	CCO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200762	NANDO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200361	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C564352	RH-MESH	LOOM
http://identifiers.org/omim/607676	REXO	LOOM
http://identifiers.org/omim/607676	GEXO	LOOM
http://identifiers.org/omim/607676	RETO	LOOM